RTD
MCID: RNL028
MIFTS: 58

Renal Tubular Dysgenesis (RTD) malady

Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases categories

Summaries for Renal Tubular Dysgenesis

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22Genetics Home Reference, 48OMIM, 34MalaCards
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Genetics Home Reference:22 Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. Without functional proximal tubules, the kidneys cannot produce urine (a condition called anuria).

MalaCards: Renal Tubular Dysgenesis, also known as primitive renal tubule syndrome, is related to oligohydramnios and hypertension, and has symptoms including oligoamnios, renal disease/nephropathy and tetralogy of fallot/trilogy of fallot. An important gene associated with Renal Tubular Dysgenesis is AGT (angiotensinogen (serpin peptidase inhibitor, clade A, member 8)), and among its related pathways are Gastrin-CREB signalling pathway via PKC and MAPK and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. The compounds sampatrilat and alacepril have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and fetal liver, and related mouse phenotypes are renal/urinary system and cardiovascular system.

Description from OMIM:48 267430

Aliases & Classifications for Renal Tubular Dysgenesis

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44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Aliases & Descriptions:

renal tubular dysgenesis 44 22 48 46 50
primitive renal tubule syndrome 44 22 50
renal tubular dysgenesis of genetic origin 50
allanson pantzar mcleod syndrome 22
renotubular dysgenesis 50
rtd 44


External Ids:

OMIM48 267430
ICD10 via Orphanet27 Q63.8
UMLS via Orphanet64 C0266313

Related Diseases for Renal Tubular Dysgenesis

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Renal Tubular Dysgenesis family:

Renal Tubular Dysgenesis, Ace-Related Renal Tubular Dysgenesis, Agt-Related
Renal Tubular Dysgenesis, Agtr1-Related Renal Tubular Dysgenesis, Ren-Related
Renal Tubular Dysgenesis Due to Twin-Twin Transfusion

Diseases related to Renal Tubular Dysgenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1oligohydramnios30.9ACE
2hypertension30.1REN, ACE, AGT, AGTR1
3hemochromatosis10.4
4neonatal hemochromatosis10.4
5renal tubular dysgenesis, ace-related10.3
6renal tubular dysgenesis, agt-related10.3
7renal tubular dysgenesis, agtr1-related10.3
8renal tubular dysgenesis, ren-related10.3
9renal tubular dysgenesis due to twin-twin transfusion10.3
10renal tubular dysgenesis drugs-related10.3
11microcephaly10.2
12nephrocalcinosis10.2
13nephronophthisis10.2
14intestinal perforation10.2
15ischemia10.2
16kidney disease10.2
17twin twin transfusion syndrome10.2
18meconium ileus10.2
19nephritis10.2
20ileus10.2
21fibromuscular dysplasia10.1REN
22hypoaldosteronism10.1REN
23portal hypertension10.1REN
24hepatorenal syndrome10.1REN
25congestive heart failure10.1REN
26mitral valve prolapse10.1AGTR1
27malignant hypertension10.0REN, ACE
28hypertension, diastolic10.0REN, ACE
29renal hypertension10.0REN, ACE
30angioedema10.0AGT, ACE
31pure autonomic failure10.0REN, ACE
32gitelman syndrome10.0REN, AGT
33hypokalemia10.0ACE, REN
34nephrosclerosis10.0AGTR1, ACE
35polycystic kidney disease, autosomal dominant10.0REN, ACE
36hypertensive heart disease10.0ACE, AGTR1
37nephrotic syndrome10.0ACE, AGT
38stroke, ischemic10.0ACE, REN
39erythrocytosis10.0AGTR1, ACE
40vesicoureteral reflux10.0AGT, AGTR1
41focal segmental glomerulosclerosis10.0ACE, AGTR1
42conn's syndrome10.0REN, AGTR1
43cerebrovascular disease10.0AGTR1, ACE
44liver cirrhosis10.0AGT, REN
45adrenal adenoma10.0AGTR1, REN
46pulmonary fibrosis10.0AGTR1, AGT
47diabetic retinopathy10.0AGTR1, AGT, ACE
48iga glomerulonephritis10.0ACE, AGT, AGTR1
49familial hyperlipidemia10.0AGTR1, AGT, ACE
50hypercholesterolemia10.0AGTR1, AGT, ACE

Graphical network of the top 20 diseases related to Renal Tubular Dysgenesis:



Diseases related to renal tubular dysgenesis

Symptoms for Renal Tubular Dysgenesis

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

267430

Clinical features from OMIM:

267430

Symptoms:

50 (show all 14)
  • oligoamnios
  • renal disease/nephropathy
  • tetralogy of fallot/trilogy of fallot
  • simian crease/transverse/unique palmar crease
  • microcephaly
  • prematurity
  • polyhydramnios
  • stillbirth/neonatal death
  • autosomal recessive inheritance
  • hyperextensible joints/articular hyperlaxity
  • renal tubular defect/tubulopathy
  • polycystic kidneys
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • hypertelorism

Drugs & Therapeutics for Renal Tubular Dysgenesis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Renal Tubular Dysgenesis

Drug clinical trials:

Search ClinicalTrials for Renal Tubular Dysgenesis

Search NIH Clinical Center for Renal Tubular Dysgenesis

Search CenterWatch for Renal Tubular Dysgenesis

Genetic Tests for Renal Tubular Dysgenesis

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Anatomical Context for Renal Tubular Dysgenesis

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34MalaCards
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MalaCards organs/tissues related to Renal Tubular Dysgenesis:

34
Kidney, Lung, Fetal liver, Placenta, Liver

Animal Models for Renal Tubular Dysgenesis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Renal Tubular Dysgenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.1AGTR1, AGT, ACE, REN
2MP:00053858.1REN, ACE, AGT, AGTR1
3MP:00053878.0AGTR1, AGT, ACE, REN
4MP:00107688.0AGTR1, AGT, ACE, REN
5MP:00053787.9REN, ACE, AGT, AGTR1
6MP:00053767.7REN, ACE, AGT, AGTR1

Publications for Renal Tubular Dysgenesis

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53PubMed
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Articles related to Renal Tubular Dysgenesis:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Renal tubular dysgenesis. (23636579)
2014
2
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. (22095942)
2012
3
Impaired proteostasis contributes to renal tubular dysgenesis. (21695262)
2011
4
Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. (21265929)
2011
5
Renin-angiotensin system in kidney development: renal tubular dysgenesis. (19924102)
2010
6
Non-specific histopathological changes in kidney with renal tubular dysgenesis. (19616900)
2010
7
Inherited renal tubular dysgenesis may not be universally fatal. (20607303)
2010
8
Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. (19809376)
2010
9
A further case of renal tubular dysgenesis surviving the neonatal period. (18478260)
2009
10
Congenital unilateral renal tubular dysgenesis and severe neonatal hypertension. (18982358)
2009
11
Renal tubular dysgenesis in Israel: pathologist's experience and literature review. (19344005)
2009
12
Inherited renal tubular dysgenesis: the first patients surviving the neonatal period. (17443344)
2008
13
Renal tubular dysgenesis: report of two cases in a non-consanguineous couple and review of the literature. (17003548)
2007
14
A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations. (17036344)
2006
15
Renal tubular dysgenesis with atypical histology and in-utero exposure to naproxen sodium. (16925962)
2006
16
Renal tubular dysgenesis associated with in utero exposure to Nimuselide. (16328538)
2006
17
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system. (16790508)
2006
18
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. (16116425)
2005
19
Renal tubular dysgenesis with hypoplastic calvaria: report of two cases. (15517826)
2004
20
Renal tubular dysgenesis-a case presentation. (15641273)
2004
21
Renal tubular dysgenesis and neonatal hemochromatosis without pulmonary hypoplasia. (14677054)
2004
22
Renal tubular dysgenesis complicated with severe cranium hypoplasia. (15043673)
2004
23
Renal tubular dysgenesis. (12908566)
2003
24
Renal tubular dysgenesis in an hydropic fetus with trisomy 21: a case report with literature review. (15018458)
2003
25
Renal tubular dysgenesis and multiple intestinal perforation. (12447649)
2003
26
Renal tubular dysgenesis in siblings. (12908573)
2003
27
Renal tubular dysgenesis with medullary ray nodules. (12644933)
2003
28
Fibroepithelial bladder polyp and renal tubular dysgenesis: an unusual cause of third-trimester oligohydramnios. (11549150)
2001
29
Lysozyme immunostaining in renal tubular dysgenesis. (10679040)
2000
30
Renal tubular dysgenesis-like lesions and hypocalvaria. Report of two cases involving indomethacin. (11186177)
2000
31
Renal tubular dysgenesis (RTD) - an important cause of the oligohydramnion-sequence. Report of 3 cases and review of the literature. (11156331)
2000
32
Oxalate nephrocalcinosis in renal tubular dysgenesis. (10671031)
1999
33
Renal tubular dysgenesis in twin-twin transfusion syndrome. (9841703)
1999
34
Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome. (9856560)
1998
35
Renal tubular dysgenesis in twins. (9686962)
1998
36
Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review. (9350819)
1997
37
Renal tubular dysgenesis: a cause of second trimester oligohydramnios. (9321784)
1997
38
Renal tubular dysgenesis with microcephaly. (9260254)
1997
39
Renal tubular dysgenesis: a report of two cases. (8979193)
1996
40
Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules. (8705201)
1995
41
Renal tubular dysgenesis without pulmonary hypoplasia. (8018503)
1994
42
Labeled lectin studies of renal tubular dysgenesis and renal tubular atrophy of postnatal renal ischemia and end-stage kidney disease. (8159624)
1994
43
Renal tubular dysgenesis: evidence of abnormality in the renin-angiotensin system. (7994002)
1994
44
Renal tubular dysgenesis. (8160762)
1994
45
Renal tubular dysgenesis: a description of early renal maldevelopment in siblings. (8464784)
1993
46
Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review. (1642268)
1992
47
Renal tubular dysgenesis. (1853827)
1991
48
Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type. (1877630)
1991
49
Renal tubular dysgenesis: delayed onset of oligohydramnios. (2650547)
1989
50
Renal tubular dysgenesis. (3211817)
1988

Variations for Renal Tubular Dysgenesis

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Dysgenesis:

65
id Symbol AA change Variation ID SNP ID
1AGTp.Arg375GlnVAR_035433
2AGTR1p.Thr282MetVAR_035086
3RENp.Arg230LysVAR_035087
4RENp.Asp104AsnVAR_035088

Clinvar genetic disease variations for Renal Tubular Dysgenesis:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1RENNM_000537.3(REN): c.145C> T (p.Arg49Ter)single nucleotide variantPathogenicrs121917741GRCh37Chr 1, 204131245: 204131245
2RENNM_000537.3(REN): c.689G> A (p.Arg230Lys)single nucleotide variantPathogenicrs121917742GRCh37Chr 1, 204128527: 204128527
3ACENM_000789.3(ACE): c.798C> G (p.Tyr266Ter)single nucleotide variantPathogenicrs121912704GRCh37Chr 17, 61557840: 61557840
4ACENM_000789.3(ACE): c.1319_1322delTGGA (p.Leu440Profs)deletionPathogenicrs387906576GRCh37Chr 17, 61560027: 61560030
5AGTR1NM_031850.3(AGTR1): c.215dupT (p.Ile73Hisfs)duplicationPathogenicrs387906577GRCh37Chr 3, 148458932: 148458933
6AGTR1NM_031850.3(AGTR1): c.950C> T (p.Thr317Met)single nucleotide variantPathogenicrs104893677GRCh37Chr 3, 148459667: 148459667
7AGTNM_000029.3(AGT): c.1124G> A (p.Arg375Gln)single nucleotide variantPathogenicrs74315283GRCh37Chr 1, 230841679: 230841679
8AGTNM_000029.3(AGT): c.604C> T (p.Gln202Ter)single nucleotide variantPathogenicrs121912702GRCh37Chr 1, 230845993: 230845993
9AGTNM_000029.3(AGT): c.1290delT (p.Phe430Leufs)deletionPathogenicrs387906578GRCh37Chr 1, 230839055: 230839055
10AGTR1NM_031850.3(AGTR1): c.356G> A (p.Trp119Ter)single nucleotide variantPathogenicrs398122935GRCh37Chr 3, 148459073: 148459073
11AGTR1NM_031850.3(AGTR1): c.481C> T (p.Arg161Ter)single nucleotide variantPathogenicrs397514687GRCh37Chr 3, 148459198: 148459198
12ACENM_000789.3(ACE): c.1486C> T (p.Arg496Ter)single nucleotide variantPathogenicrs397514688GRCh37Chr 17, 61560533: 61560533
13ACENM_000789.3(ACE): c.2371C> T (p.Arg791Ter)single nucleotide variantPathogenicrs397514689GRCh37Chr 17, 61566074: 61566074
14RENNM_000537.3(REN): c.127C> T (p.Arg43Ter)single nucleotide variantPathogenicrs397514690GRCh37Chr 1, 204131263: 204131263
15RENNM_000537.3(REN): c.404C> A (p.Ser135Tyr)single nucleotide variantPathogenicrs397514691GRCh37Chr 1, 204129776: 204129776

Expression for genes affiliated with Renal Tubular Dysgenesis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Renal Tubular Dysgenesis

Search GEO for disease gene expression data for Renal Tubular Dysgenesis.

Pathways for genes affiliated with Renal Tubular Dysgenesis

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51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN, 52PharmGKB
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Pathways related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1AGTR1, AGT
2
Show member pathways
8.8AGT, ACE, REN
3
Show member pathways
8.8REN, ACE, AGT
4
Show member pathways
8.0AGTR1, AGT, ACE, REN
5
Show member pathways
8.0AGTR1, AGT, ACE, REN

Compounds for genes affiliated with Renal Tubular Dysgenesis

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46Novoseek, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 52PharmGKB, 25HMDB
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Compounds related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1sampatrilat469.3ACE, REN
2alacepril469.3REN, ACE
3temocaprilat469.3ACE, AGTR1
4ibopamine469.2REN, ACE
5remikiren46 1210.2REN, ACE, AGT
6enalaprilat469.2AGT, ACE, REN
7pd12331946 3010.0ACE, AGTR1, AGT
8lacidipine468.9REN, ACE, AGTR1
9cilazapril46 129.9REN, AGTR1, ACE
10trandolapril46 129.9AGTR1, REN, ACE
11fosinopril46 129.9AGTR1, ACE, REN
12eplerenone46 62 30 1211.9AGTR1, REN, ACE
13quinapril46 52 1210.9REN, AGTR1, ACE
14ramipril46 129.8AGTR1, REN, ACE
15hydralazine46 52 1210.8AGTR1, ACE, REN
16thiazide468.8ACE, REN, AGTR1
17felodipine46 30 1210.8AGTR1, ACE, REN
18dihydropyridine468.8AGTR1, ACE, REN
19spironolactone46 62 30 52 1212.8AGTR1, ACE, REN
20carvedilol46 52 30 1211.8AGTR1, ACE, REN
21nitroglycerin46 129.7REN, ACE, AGTR1
22digoxin46 62 52 25 1212.7ACE, AGTR1, REN
23furosemide46 62 30 52 25 1213.7REN, ACE, AGTR1
24aliskiren46 129.4AGTR1, AGT, ACE, REN
25saralasin468.4AGTR1, AGT, ACE, REN
26eprosartan46 30 1210.4AGTR1, REN, ACE, AGT
27olmesartan46 30 1210.4REN, ACE, AGT, AGTR1
28benazepril46 52 1210.4ACE, AGT, AGTR1, REN
29lisinopril46 52 25 1211.4REN, ACE, AGT, AGTR1
30chymostatin468.4AGTR1, AGT, ACE, REN
31valsartan46 62 30 1211.4AGTR1, REN, AGT, ACE
32telmisartan46 30 1210.4AGTR1, REN, AGT, ACE
33perindopril46 52 1210.4AGT, ACE, REN, AGTR1
34atenolol46 52 30 25 1212.4ACE, REN, AGT, AGTR1
35irbesartan46 30 52 1211.4AGT, AGTR1, REN, ACE
36diltiazem46 30 52 1211.4AGT, REN, ACE, AGTR1
37candesartan46 52 30 1211.4REN, ACE, AGTR1, AGT
38hydrochlorothiazide46 30 52 25 1212.4AGT, AGTR1, REN, ACE
39enalapril46 52 1210.4AGT, REN, ACE, AGTR1
40amlodipine46 52 25 1211.4ACE, AGT, AGTR1, REN
41captopril46 62 52 30 1212.4ACE, AGT, AGTR1, REN
42ang ii468.4REN, ACE, AGT, AGTR1
43losartan46 52 30 1211.4ACE, REN, AGT, AGTR1
44nifedipine46 30 52 1211.3AGTR1, REN, ACE, AGT
45prostacyclin468.3AGTR1, AGT, REN, ACE
46norepinephrine46 25 1210.2ACE, AGT, AGTR1, REN
47potassium46 25 1210.2AGT, REN, ACE, AGTR1
48sodium46 259.1AGT, ACE, AGTR1, REN
49creatinine468.1REN, ACE, AGT, AGTR1
50cholesterol46 30 25 1210.7REN, ACE, AGT, AGTR1

GO Terms for genes affiliated with Renal Tubular Dysgenesis

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17Gene Ontology
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Cellular components related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.8AGT, ACE, REN
2extracellular spaceGO:0056158.5AGT, ACE, REN

Biological processes related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1regulation of renal output by angiotensinGO:0020199.8ACE, AGT
2blood vessel remodelingGO:0019749.6AGT, ACE
3regulation of blood vessel size by renin-angiotensinGO:0020349.4AGTR1, AGT
4positive regulation of NAD(P)H oxidase activityGO:0338649.4AGTR1, AGT
5regulation of renal sodium excretionGO:0358139.4AGT, AGTR1
6regulation of systemic arterial blood pressure by renin-angiotensinGO:0030819.4AGTR1, ACE
7positive regulation of cholesterol esterificationGO:0108739.4AGTR1, AGT
8regulation of vasodilationGO:0423129.4ACE, AGTR1
9low-density lipoprotein particle remodelingGO:0343749.4AGTR1, AGT
10positive regulation of cellular protein metabolic processGO:0322709.4AGTR1, AGT
11positive regulation of macrophage derived foam cell differentiationGO:0107449.3AGT, AGTR1
12positive regulation of reactive oxygen species metabolic processGO:20003799.3AGTR1, AGT
13phospholipase C-activating G-protein coupled receptor signaling pathwayGO:0072009.2AGT, AGTR1
14regulation of blood pressureGO:0082179.2REN, ACE
15angiotensin maturationGO:0020039.1REN, ACE, AGT
16positive regulation of inflammatory responseGO:0507299.1AGTR1, AGT
17regulation of cell proliferationGO:0421279.1AGTR1, AGT
18regulation of vasoconstrictionGO:0192298.9AGTR1, AGT, ACE
19cellular protein metabolic processGO:0442678.9AGT, ACE, REN
20renin-angiotensin regulation of aldosterone productionGO:0020188.9AGTR1, AGT, REN
21regulation of cell growthGO:0015588.8AGTR1, AGT
22kidney developmentGO:0018228.3AGTR1, AGT, ACE, REN

Molecular functions related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1bradykinin receptor bindingGO:0317119.1AGTR1, ACE

Products for genes affiliated with Renal Tubular Dysgenesis

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Renal Tubular Dysgenesis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet